Fig. 1: Spina bifida cohorts and analytical workflow. | Genetics in Medicine

Fig. 1: Spina bifida cohorts and analytical workflow.

From: Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida

Fig. 1

(a) Two first principal components (PCs) from population admixture data of the individuals in the study colored by cohort and case status. (b) Study design and approach for high-confidence copy-number variant (CNV) detection in reliable genomic regions using genome sequencing data. PE paired end, RD read depth, SR split-read.

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